Article
Functional Impact of Novel Androgen Receptor Mutations on the Clinical Manifestation of Androgen Insensitivity Syndrome.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - 1 Jan 2017
Petroli Reginaldo J, Hiort Olaf, Struve Dagmar, Gesing Julia K, Soardi Fernanda C, Spínola-Castro Angela M, Melo Karla, Prado Arnhold Ivo J, Maciel-Guerra Andréa T, Guerra-Junior Gil, Werner Ralf, de Mello Maricilda P
Abstract excerpt
Androgens are responsible for the development and maintenance of male sex characteristics. Dysfunctions in androgen action due to mutations in the androgen receptor gene (AR) can lead to androgen insensitivity syndrome (AIS) that can be classified as mild (MAIS), partial (PAIS), or complete (CAIS). We have analyzed functional effects of p.Ser760Thr, p.Leu831Phe, p.Ile899Phe, p.Leu769Val, and p.Pro905Arg mutations...
Topics
- Adolescent
- Adult
- Androgen-Insensitivity Syndrome
- Child, Preschool
- Female
- Humans
- Male
- Mutation
- Receptors, Androgen
- Two-Hybrid System Techniques
- Young Adult